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A. Vancini · SciRah

Researcher profile · Semantic Scholar

A. Vancini

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A. Vancini — researcher profile on SciRah

h-index: 5
Works: 11
Citations: 277

Most-cited papers

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
L. Micale, B. Augello, C. Maffeo, A. Selicorni +35 more
2014Human Mutation106 citations Open access
Semantic Scholar
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
L. Micale, B. Augello, C. Fusco, A. Selicorni +37 more
2011Orphanet Journal of Rare Diseases100 citations Open access
Semantic Scholar
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
F. Lepri, D. Cocciadiferro, B. Augello, P. Alfieri +12 more
2017International Journal of Molecular Sciences27 citations Open access
Semantic Scholar
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
E. Bogaert, A. Garde, Thierry Gautier, Kathleen Rooney +60 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
Mediterranean Diet Affects Blood Circulating Lipid-Soluble Micronutrients and Inflammatory Biomarkers in a Cohort of Breast Cancer Survivors: Results from the SETA Study
M. Negrati, C. Razza, C. Biasini, C. di Nunzio +6 more
2021Nutrients16 citations Open access
Semantic Scholar
Infection-Related Stillbirths: A Detailed Examination of a Nine-Year Multidisciplinary Study
L. Gabrielli, Matteo Pavoni, F. Monari, Federico Baiesi Pillastrini +11 more
2025Microorganisms4 citations Open access
Semantic Scholar
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C
A. Sparago, Flavia Cerrato, Laura Pignata, F. Cammarata-Scalisi +4 more
2021Genes4 citations Open access
Semantic Scholar
Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD)
G. Serra, Giovanni Barbera, Vincenzo Antona, Danilo Malizia +7 more
2026Journal of Clinical Medicine0 citations Open access
Semantic Scholar
Novel Early Kangaroo Care and Breastfeeding Approach Through Polyethylene Wrap in Collodion Baby Syndrome: A Case Report
E. Perre, E. Pasquali, M. De Angelis, Piero Catenazzi +3 more
2025Breastfeeding Medicine0 citations
Semantic Scholar
Stillbirth and infection: a clinical, pathological and microbiological multidisciplinary workup on placenta and fetus
A. Salerno, L. Gabrielli, A. Vancini, A. Donati
20170 citations
Semantic Scholar
[Use of palivizumab in the prevention of syncytial virus respiratory infection].
F. Vagnarelli, C. Magnani, A. Vancini, G. Bonacini +4 more
2000Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma0 citations
Semantic Scholar

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